ZMP

pafah1b1b

Ensembl ID:

ENSDARG00000026595

ZFIN ID:

ZDB-GENE-040116-3

Description:

Lissencephaly-1 homolog B [Source:UniProtKB/Swiss-Prot;Acc:Q803D2]

Human Orthologue:

PAFAH1B1

Human Description:

platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) [Source:HGNC Symbol;Acc:

Mouse Orthologue:

Pafah1b1

Mouse Description:

platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 Gene [Source:MGI Symbol;Acc:MGI:10

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa25167	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa43704	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa25167

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000031470	Essential Splice Site	64	410	4	11

Genomic Location (Zv9):

Chromosome 21 (position 38274861)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	39394940
GRCz11	21	39439998

KASP Assay ID:

554-7330.1 (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAGGACTTTTGGAAAAGAAATGGACTTCGGTTATCAGATTACAAAAAAAG[G/A]TCAGTACAAGGATTTTATTATACAAATATATTTATATCCCTTTAAACCAG

Long Flanking Sequence:

GAAGAGGCATATTCCACTTTTAAGAAGGAGGCAGAGTTGGATGTGGTAATGACACATTAACACTATTTTTTTAACCATCATAATGCATTCAGGTCCATTTTGACTGGAAAGCTTGGGGAACCAAACCTTGAAATACACAAGCATTGTAAAACATGTTTGATTCTAGATGTCAGACCACTGAAAAATTTTACATGTATACTTTTAAAGAGTAAACATGGTAACTTTCAAAGCTTTTTTTTTTACACCTTATTCACTCAAACAGCAGTGCTGATAAGATGCAGGTCTTTTGGAAAATTAAGTTAAAAAAATTCAATGCAAAAAAGGTTTTGATGGCATTATTCATACAGAAAATAAATACTAATGGATTGTTTGTAGGATAAATTCTCATTCTTGTATTACTATTATTTTTGTTTATTATTTTTCAGAATGATGAGTTGGATAAGAAGTTTGCAGGACTTTTGGAAAAGAAATGGACTTCGGTTATCAGATTACAAAAAAAG[G/A]TCAGTACAAGGATTTTATTATACAAATATATTTATATCCCTTTAAACCAGGGGTCTCAAACAGTTGACCCACGAACCAATTGTGCCCCCTCCTCCTCTTCCCTCCGGGCCGCAACTGATATGAAAAATATAACGAGATTCTGATTATAGTCAGTTTTATACCACCTGTGTTTTGTTGTGCAAACATCTCTTCTTGGCTTACATGTTATGATAATGGTGTAAATATGATAAATGTGCTAATATTTGATTCAAATTGTCTCATTTATAGATTTTTCTATTATGCATAGGGGTGTCACAATTTCGATTTTTAATCGAAATCGATCGAAATTTATGCTCAATTTCGATTATCGAATCAAAAAATAGAATCGTCGATGCTGCCACGCCCCCATGGCTTGCCAAGCGGGAAAAAACAGGCTTGTTGAAGTGCTTGTTAAACTGCAGAAGCAGGAGACCCGTCGACAGAACTTAAACCCTCTCCTCTTTCAATGAAGTTGCCGGTGT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa43704

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000031470	Nonsense	284	410	8	11

Genomic Location (Zv9):

Chromosome 21 (position 38283458)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	39403537
GRCz11	21	39448595

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGCAAGGCGGAGCTGAGGGAGCACGAGCATGTGGTGGAGTGTATCTCCTG[G/A]GCCCCTGAGAGCGCACATCCTACTATATCCGAGGCCACAGGCTCTGAGGT

Long Flanking Sequence:

ATGTGACGCAAGCACCCAAACATGCTTGTAAAATGTGAGAAGTGTGACTGCATGCTTATTTCTTATTCATTCTTTTCATAACAGGACACGATCACAATGTGTCGTCAGTTGCCATCATGCCTAACGGTGACCACATAGTGTCTGCTTCCAGGGATAAGACGATGAAGATGTGGGAAGTGGCCACTGGGTGAGTAACACTGGCCAAATAATTCCTTTCAACAAGCTCTGAATGTTTGCATTTGTAAAGAAAGCAGACAAACAGTCCAAAGCAAAACAAATTGATGTGTGAATGTATAATGATCGTCTCCGTCTTGCCTCAGTTACTGCGTGAAGACGTTCACAGGTCACAGAGAGTGGGTTCGTATGGTCCGGCCCAATCAAGACGGCACGCTGTTGGCCAGCTGCTCCAATGACCAGACGGTGCGCGTGTGGGTCGTGGCCACCAAAGAGTGCAAGGCGGAGCTGAGGGAGCACGAGCATGTGGTGGAGTGTATCTCCTG[G/A]GCCCCTGAGAGCGCACATCCTACTATATCCGAGGCCACAGGCTCTGAGGTACATTTACAGGATGATTTTTGTCTCCTCCCATCATTCCCAGTTGTTCAATACCTTCTTGTGTTGCAGAACAAGAAGAGTGGAAAGCCTGGGCCATTCCTGTTATCTGGATCCAGAGACAAGACCATTAAAATGTGGGACATCAGTACTGGCATGTGCCTTATGACACTGGTGAGTGGAGCTGTACTTCTCCCACCTGCATTGTATTATATACAGTAGGGCTGCTCGATTATGGGAAAAACCATAATCACGATTATTTTGGTCATAATTGTAATCACGATCATTCAAAACGAGTATTAGTTGAAGTTAAAATTATTCGTCCTCCTGTAAATTTATTTTTATATATAAATATTTCCCAAATGATGTGTAACCGAGGTTTTTTTTTTTTTACAGTATTTTCTATATTATTTTTATTCTTCTGGAGAAAGGCTTATTTGTTTTATTTCAGCTAG

Associated Phenotype:

Not determined